P28L (p.Pro28Leu) variant of RB1 (P06400)
P28L (p.Pro28Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinoblastoma; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs776175164
- ClinGen CA388250287
- ClinVar RCV000688608
- ClinVar RCV002440436
- Conflicting interpretations
- Retinoblastoma; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.32
- MetaLR 0.44
- MetaSVM -0.23
- CADD 15.60
- PolyPhen-2 0.04
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Retinoblastoma; not provided; Hereditary cancer-predisposing syn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)